List of variants reported as benign for Seckel syndrome 4

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Total variants: 24

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HGVS	dbSNP	gnomAD frequency
NM_018451.5(CENPJ):c.3216+7A>G	rs9318917	0.80822
NM_018451.5(CENPJ):c.3478-49C>T	rs1530876	0.78901
NM_018451.5(CENPJ):c.3042A>G (p.Glu1014=)	rs3742165	0.47759
NM_018451.5(CENPJ):c.*404C>T	rs77868928	0.13457
NM_018451.5(CENPJ):c.*639T>C	rs61947515	0.12574
NM_018451.5(CENPJ):c.*398A>G	rs11620289	0.11436
NM_018451.5(CENPJ):c.2635T>G (p.Ser879Ala)	rs17402892	0.10073
NM_018451.5(CPAP):c.253C>A (p.Pro85Thr)	rs9511510	0.10060
NM_018451.5(CENPJ):c.1560A>T (p.Thr520=)	rs17081368	0.04825
NM_018451.5(CENPJ):c.163C>G (p.Pro55Ala)	rs17081389	0.02639
NM_018451.5(CENPJ):c.187G>C (p.Asp63His)	rs7336216	0.02151
NM_018451.5(CENPJ):c.1881G>A (p.Pro627=)	rs75985315	0.01708
NM_018451.5(CENPJ):c.2031C>T (p.Ala677=)	rs61729909	0.01628
NM_018451.5(CPAP):c.287A>G (p.His96Arg)	rs61739263	0.01206
NM_018451.5(CENPJ):c.*623A>G	rs115136790	0.01144
NM_018451.5(CENPJ):c.3367-12T>C	rs3742163	0.00421
NM_018451.5(CPAP):c.1233G>A (p.Pro411=)	rs112133852	0.00368
NM_018451.5(CENPJ):c.*570T>C	rs139596189	0.00313
NM_018451.5(CPAP):c.68A>G (p.Asn23Ser)	rs116981543	0.00264
NM_018451.5(CENPJ):c.2806A>G (p.Ser936Gly)	rs75008861	0.00070
NM_018451.5(CENPJ):c.763A>G (p.Thr255Ala)	rs150932292	0.00053
NM_018451.5(CENPJ):c.3704-14_3704-12del	rs34991318
NM_018451.5(CPAP):c.61A>G (p.Met21Val)	rs35498994
NM_018451.5(CPAP):c.61A>T (p.Met21Leu)	rs35498994

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